ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.924C>T (p.Tyr308=)

gnomAD frequency: 0.00004  dbSNP: rs762065412
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000464858 SCV000557963 likely benign Hypertrophic cardiomyopathy 2023-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620466 SCV000735765 likely benign Cardiovascular phenotype 2017-02-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV001181138 SCV001346225 likely benign Cardiomyopathy 2019-07-15 criteria provided, single submitter clinical testing
GeneDx RCV001557656 SCV001779453 likely benign not provided 2020-03-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489107 SCV002803170 likely benign Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy 2021-07-28 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV001181138 SCV004816465 likely benign Cardiomyopathy 2023-11-30 criteria provided, single submitter clinical testing

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